Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

Irene Bottillo, Isabella Torrente, Valentina Lanari, Valentina Pinna, Sandra Giustini, Luigina Divona, Alessandro De Luca, Bruno Dallapiccola

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion(c.4773-3622-?-5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.

Original languageEnglish
Pages (from-to)1467-1473
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number6
DOIs
Publication statusPublished - Jun 2010

Fingerprint

Neurofibromatosis 1
Mosaicism
Exons
Alleles
Siblings
Neurofibromatosis 1 Genes
Parents
Mutation
Nuclear Family
Fathers
Spermatozoa
Real-Time Polymerase Chain Reaction
Mothers
Recurrence

Keywords

  • Germline mosaicism
  • Neurofibromatosis type 1 (NF1)
  • Real time PCR

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. / Bottillo, Irene; Torrente, Isabella; Lanari, Valentina; Pinna, Valentina; Giustini, Sandra; Divona, Luigina; De Luca, Alessandro; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 6, 06.2010, p. 1467-1473.

Research output: Contribution to journalArticle

Bottillo, Irene ; Torrente, Isabella ; Lanari, Valentina ; Pinna, Valentina ; Giustini, Sandra ; Divona, Luigina ; De Luca, Alessandro ; Dallapiccola, Bruno. / Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 6. pp. 1467-1473.
@article{501fc53dd3024ecb89e2091e684f5d33,
title = "Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion",
abstract = "We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion(c.4773-3622-?-5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17{\%} of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.",
keywords = "Germline mosaicism, Neurofibromatosis type 1 (NF1), Real time PCR",
author = "Irene Bottillo and Isabella Torrente and Valentina Lanari and Valentina Pinna and Sandra Giustini and Luigina Divona and {De Luca}, Alessandro and Bruno Dallapiccola",
year = "2010",
month = "6",
doi = "10.1002/ajmg.a.33386",
language = "English",
volume = "152",
pages = "1467--1473",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

AU - Bottillo, Irene

AU - Torrente, Isabella

AU - Lanari, Valentina

AU - Pinna, Valentina

AU - Giustini, Sandra

AU - Divona, Luigina

AU - De Luca, Alessandro

AU - Dallapiccola, Bruno

PY - 2010/6

Y1 - 2010/6

N2 - We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion(c.4773-3622-?-5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.

AB - We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion(c.4773-3622-?-5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.

KW - Germline mosaicism

KW - Neurofibromatosis type 1 (NF1)

KW - Real time PCR

UR - http://www.scopus.com/inward/record.url?scp=77952772805&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77952772805&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.33386

DO - 10.1002/ajmg.a.33386

M3 - Article

VL - 152

SP - 1467

EP - 1473

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -